This study is NOT currently recruiting participants.
Number
02-C-0212
Sponsoring Institute
National Cancer Institute (NCI)
Recruitment Detail
Type: Completed Study; data analyses ongoing Gender: Male & Female Min Age: 18 Max Age: 100
Referral Letter Required
No
Population Exclusion(s)
Children;Non-English Speaking
Keywords
Counseling/behavioral/psychosocial; Gene discovery; Cancer prevention; Risk-reduction; Hereditary; Natural History
Recruitment Keyword(s)
Breast Cancer; Ovarian Cancer; Cowden Syndrome; Peutz-Jegher Syndrome; Li-Fraumeni Syndrome
Condition(s)
Familial ovarian cancer; Familial breast cancer; BRCA1-associate malignancies; BRCA2-associated malignancies
Investigational Drug(s)
None
Investigational Device(s)
Intervention(s)
Supporting Site
National Cancer Institute
Clinical genetic testing for tumor susceptibility gene(s) mutations and risk notification will be offered consistent with ASCO guidelines when reasonable individual cancer risk estimates can be delivered, and only to those participants who choose to know their individual genetic status after appropriate education and counseling. The testing will be conducted exclusively in Clinical Laboratory Improvement Amendments (CLIA)-licensed laboratories. Clinical genetic testing and risk notification are entirely optional and do not affect subject eligibility for other aspects of the protocol. A separate consent procedure and consent form will be used for genetic testing and risk notification.
This protocol, developed in response to recommendations developed by the Clinical Center IRB, is intended to:
(a) Provide a mechanism under which the Clinical Genetics Branch can honor the commitment made to the members of over 60 hereditary breast/ovarian cancer families which have been participated in various Human Genetics Program research studies conducted over the past 3 decades to provide genetic counseling,
clinical germline mutation testing, and consultative services now that several of the major breast/ovarian cancer susceptibility genes have been identified;
(b) Provide a mechanism through which new families with various familial syndromes associated with an increased risk of breast and ovarian cancer can be studied, as research interests in these syndromes evolve over time; and
(c) Create a resource of well-characterized, carefully documented high-risk families to facilitate the development of new etiologic and translational research studies in the future.
While we do not offer specific anti-cancer therapy as part of this protocol, we provide assistance to ensure that study participants who require treatment for problems that develop during the course of the study are referred to appropriate health providers. We
remain available to provide advice and consultation related to the management of the familial cancer syndrome to study participants and their health care providers.
--Back to Top--
INCLUSION CRITERIA: Individuals age 18 and over are considered for inclusion in the study if they have a: Family history of neoplasia of an unusual type, pattern, or number which includes breast cancer or is consistent with an identified or suspected familial cancer syndrome which includes breast and/or ovarian cancer, Personal history of neoplasia(s) or benign conditions of an unusual type or with unusual demographic features (young age of onset, multiple primary sites, rare tumor type of pathologic characteristics) consistent with an identified or suspected familial cancer syndrome which includes breast and/or ovarian cancer, or A known mutation associated with one of the breast/ovarian cancer family syndromes. Eligibility is now restricted to only bloodline individuals age 18 and over from families which are already enrolled in 02-C-0212 and in which there is a known BRCA mutation Personal and family medical history must be verified through questionnaires, interviews, and review of pathology slides and medical records. For known or suspected familial syndromes in which no gene has been identified, two or more living affected cases among family members are required for participation. The types of familial syndromes under active accrual and study are predominantly investigator-and hypothesis-driven. This approach permits CGB investigators to remain alert to the opportunities afforded by unexpected clusters of rare tumors in families and individuals, and to tailor the accrual of families with specific types of syndromes to meet programmatic goals. This requires that CGB investigators remain abreast of both general knowledge and state-of the-art developments in clinical oncology, genetics, epidemiology and molecular biology, so that critical research opportunities can be recognized when they present, and so that thoughtful decisions can be made regarding the commitment of the resources needed to conduct such studies. EXCLUSION CRITERIA: Individuals and families referred for evaluation in whom reported diagnoses are not verifiable. Inability to provide informed consent.
Individuals age 18 and over are considered for inclusion in the study if they have a:
Family history of neoplasia of an unusual type, pattern, or number which includes breast cancer or is consistent with an identified or suspected familial cancer syndrome which includes breast and/or ovarian cancer,
Personal history of neoplasia(s) or benign conditions of an unusual type or with unusual demographic features (young age of onset, multiple primary sites, rare tumor type of pathologic characteristics) consistent with an identified or suspected familial cancer syndrome which includes breast and/or ovarian cancer, or
A known mutation associated with one of the breast/ovarian cancer family syndromes.
Eligibility is now restricted to only bloodline individuals age 18 and over from families which are already enrolled in 02-C-0212 and in which there is a known BRCA mutation
Personal and family medical history must be verified through questionnaires, interviews, and review of pathology slides and medical records. For known or suspected familial syndromes in which no gene has been identified, two or more living affected cases among family members are required for participation. The types of familial syndromes under active accrual and study are predominantly investigator-and hypothesis-driven. This approach permits CGB investigators to remain alert to the opportunities afforded by unexpected clusters of rare tumors in families and individuals, and to tailor the accrual of families with specific types of syndromes to meet programmatic goals. This requires that CGB investigators remain abreast of both general knowledge and state-of the-art developments in clinical oncology, genetics, epidemiology and molecular biology, so that critical research opportunities can be recognized when they present, and so that thoughtful decisions can be made regarding the commitment of the resources needed to conduct such studies.
EXCLUSION CRITERIA:
Individuals and families referred for evaluation in whom reported diagnoses are not verifiable.
Inability to provide informed consent.
Principal Investigator
Referral Contact
For more information: